DDX3X.md
... ...
@@ -1,14 +1,14 @@
1 1
# DDX3X
2 2
## Overview
3
-Mutations in the DDX3X gene, which encodes an RNA helicase involved in various aspects of RNA metabolism, have significant implications in B-cell lymphomas, including diffuse large B-cell lymphoma (DLBCL) and other related malignancies and are particularly enriched within MYC-translocated tumors. These mutations are predominantly loss-of-function (LOF) mutations, affecting the helicase domain of the protein.<sup>1</sup> Missense mutations are predominantly found in male patients and rarely in females, hence showing a sex-specific pattern.<sup>2</sup>
3
+Mutations in the DDX3X gene, which encodes an RNA helicase involved in various aspects of RNA metabolism, have significant implications in B-cell lymphomas, including BL, DLBCL, and other related malignancies and are particularly enriched within MYC-translocated tumors. These mutations are predominantly loss-of-function (LOF) mutations, affecting the helicase domain of the protein.<sup>1</sup> Missense mutations are predominantly found in male patients and rarely in females, hence showing a sex-specific pattern.<sup>2</sup>
4 4
5 5
## Relevance tier by entity
6 6
7 7
|Entity|Tier|Description |
8 8
|:------:|:----:|--------------------------------------|
9
-|BL |1-a | aSHM target and high-confidence BL gene |
10
-|DLBCL |1-a | aSHM target and high-confidence DLBCL gene |
11
-|FL |2-a | aSHM target; Although recurrent, the relevance of mutations in FL is tenuous |
9
+|BL |1 | high-confidence BL gene |
10
+|DLBCL |1 | high-confidence DLBCL gene |
11
+|FL |2 | Although recurrent, the relevance of mutations in FL is tenuous |
12 12
13 13
## Mutation incidence in large patient cohorts (GAMBL reanalysis)
14 14